Linked Data
ClinVar Variation Id:
879580
ClinVar RCV Id:
RCV001107209
dbSNP Id:
rs1945331471
gnomAD v4:
11-57600120-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57600120C>T , CM000673.2:g.57600120C>T | GRCh38 |
| NC_000011.9:g.57367593C>T , CM000673.1:g.57367593C>T | GRCh37 |
| NC_000011.8:g.57124169C>T | NCBI36 |
| NG_009625.1:g.7567C>T , LRG_105:g.7567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.293C>T MANE Select | ENSP00000278407.4:p.Pro98Leu | |
| ENST00000528996.2:c.58+1792C>T | ENSP00000431226.2:n.58+1792C>T | |
| ENST00000531605.2:c.51+1799C>T | ENSP00000503752.1:n.51+1799C>T | |
| ENST00000619430.2:c.293C>T | ENSP00000478572.2:p.Pro98Leu | |
| ENST00000676670.1:c.293C>T | ENSP00000504807.1:p.Pro98Leu | |
| ENST00000676741.1:n.1375C>T | ||
| ENST00000677275.1:n.280C>T | ||
| ENST00000677624.1:c.293C>T | ENSP00000503979.1:p.Pro98Leu | |
| ENST00000677625.1:c.293C>T | ENSP00000502857.1:p.Pro98Leu | |
| ENST00000677856.1:n.352C>T | ||
| ENST00000677915.1:c.293C>T | ENSP00000503118.1:p.Pro98Leu | |
| ENST00000678533.1:c.51+1799C>T | ENSP00000503873.1:n.51+1799C>T | |
| ENST00000678592.1:c.293C>T | ENSP00000504424.1:p.Pro98Leu | |
| ENST00000278407.8:c.293C>T | ENSP00000278407.4:p.Pro98Leu | |
| ENST00000340687.10:c.293C>T | ENSP00000341861.6:p.Pro98Leu | |
| ENST00000378323.8:c.308C>T | ENSP00000367574.4:p.Pro103Leu | |
| ENST00000378324.6:c.137C>T | ENSP00000367575.2:p.Pro46Leu | |
| ENST00000403558.1:c.395C>T | ENSP00000384420.1:p.Pro132Leu | |
| ENST00000405496.5:c.293C>T | ENSP00000384561.1:p.Pro98Leu | |
| ENST00000531133.5:c.51+1799C>T | ENSP00000435431.1:n.51+1799C>T | |
| ENST00000531797.5:c.51+1799C>T | ENSP00000432554.1:n.51+1799C>T | |
| ENST00000619430.1:c.293C>T | ENSP00000478572.1:p.Pro98Leu | |
| NM_000062.2:c.293C>T , LRG_105t1:c.293C>T | NP_000053.2:p.Pro98Leu | |
| NM_001032295.1:c.293C>T | NP_001027466.1:p.Pro98Leu | |
| NM_000062.3:c.293C>T MANE Select | NP_000053.2:p.Pro98Leu | |
| NM_001032295.2:c.293C>T | NP_001027466.1:p.Pro98Leu |